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https://www.readbyqxmd.com/read/27917774/screening-for-calreticulin-mutations-in-a-cohort-of-patients-suspected-of-having-a-myeloproliferative-neoplasm
#1
A De Kock, C Booysen
BACKGROUND: The discovery of calreticulin (CALR) has shown it to be the second most frequent mutation after the Janus Kinase 2 (JAK2) mutation in myeloproliferative neoplasms (MPNs). Its structure indicates various functions, of which two are to ensure calcium homeostasis and proper folding of other target proteins. Over 36 types of CALR mutations have been identified, all causing a recurrent frameshift in the C-terminal domain affecting CALR's localisation and calcium-binding function...
December 1, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/27913528/mutations-in-mpns-prognostic-implications-window-to-biology-and-impact-on-treatment-decisions
#2
Jamile M Shammo, Brady L Stein
The last decade has witnessed tremendous scientific advances, ushered in by the JAK2 V617F discovery, contributing to enhanced diagnostic capability and understanding of the biology of myeloproliferative neoplasms (MPNs). Discovery of the calreticulin mutations filled a diagnostic gap; more recent work sheds light on its contribution to disease pathogenesis, and prognosis. Recent studies have also identified novel JAK2 and MPL mutations in patients with essential thrombocythemia and myelofibrosis (MF). Especially in MF, the driver mutational profile has prognostic implications, with additive contributions from the acquisition of additional somatic mutations...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913527/myelofibrosis-to-transplant-or-not-to-transplant
#3
Rebecca Devlin, Vikas Gupta
Hematopoietic cell transplantation (HCT) is the only curative therapeutic modality for myelofibrosis (MF) at present. The optimal timing of HCT is not known in the presence of wider availability of less risky nontransplant therapies such as JAK 1/2 inhibitors. Careful review of patient, disease, and transplant-related factors is required in the appropriate selection of HCT vs the best available nontransplant therapies. We highlight some of the relevant issues and positioning of HCT in light of evolving data on JAK 1/2 inhibitors...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913526/update-from-the-latest-who-classification-of-mpns-a-user-s-manual
#4
Francesco Passamonti, Margherita Maffioli
The 2016 multiparameter World Health Organization (WHO) classification for Philadelphia-negative myeloproliferative neoplasms (MPNs) integrates clinical features, morphology, and genetic data to diagnose polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). The main novelties are: (1) the reduction of the hemoglobin (Hb) level threshold to diagnose PV, now established at 16.5 g/dL for men and 16 g/dL for women (based on the identification of MPN patients with PV-consistent bone marrow [BM] features and a Hb level lower than that established in the 2008 WHO classification for PV); (2) the recognition of prefibrotic/early PMF, distinguishable from ET on the basis of BM morphology, an entity having a higher tendency to develop overt myelofibrosis or acute leukemia, and characterized by inferior survival; (3) the central role of BM morphology in the diagnosis of ET, prefibrotic/early PMF, PMF, and PV with borderline Hb values; megakaryocyte number and morphology (typical in ET, atypical in both PMF forms) accompanied by a new distinction of reticulin fibrosis grade in PMF (grade 1 in prefibrotic/early PMF and grade 2-3 in PMF) constitute diagnostic criteria; and (4) the inclusion of all mutually exclusive MPN driver mutations (JAK2, CALR, and MPL) as major diagnostic criteria in ET and PMF; 10% to 15% of these patients are triple negative, and in these cases the search for an additional clonal marker (eg, mutations in ASXL1, EZH2, TET2, IDH1/IDH2, SRSF2, and SF3B1) is warranted...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27909216/molecular-determinants-of-pathogenesis-and-clinical-phenotype-in-myeloproliferative-neoplasms
#5
Jacob Grinfeld, Jyoti Nangalia, Anthony R Green
The myeloproliferative neoplasms are a heterogeneous group of clonal disorders characterised by overproduction of mature cells in the peripheral blood, together with an increased risk of thrombosis and progression to acute myeloid leukemia. The majority of patients with Philadelphia-chromosome negative myeloproliferative neoplasms harbour somatic mutations in Janus kinase 2, leading to constitutive activation. Acquired mutations in calreticulin or myeloproliferative leukemia virus oncogene are found in a significant number of patients with essential thrombocythaemia or myelofibrosis, and mutations in numerous epigenetic regulators and spliceosome components are also seen...
December 1, 2016: Haematologica
https://www.readbyqxmd.com/read/27893988/endothelin-signaling-in-bone
#6
REVIEW
Jasmin Kristianto, Michael G Johnson, Rafia Afzal, Robert D Blank
The endothelin (ET) system includes 3 small peptide hormones and a pair of G protein-coupled receptors. All 3 ETs are secreted as biologically inert precursors that must be activated by proteolytic cleavage after secretion. This reaction can be catalyzed by a pair of specific, membrane-bound extracellular ET converting enzymes or by nonspecific tissue proteases. The ET1/EDNRA axis is essential in development, with knockout mice for either displaying a similar phenotype featuring multiple defects of the craniofacial skeleton and cardiac outflow tract...
November 11, 2016: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/27892678/characterization-and-prognosis-significance-of-jak2-v617f-mpl-and-calr-mutations-in-philadelphia-negative-myeloproliferative-neoplasms
#7
Roongrudee Singdong, Teerapong Siriboonpiputtana, Takol Chareonsirisuthigul, Adcharee Kongruang, Nittaya Limsuwanachot, Tanasan Sirirat, Suporn Chuncharunee, Budsaba Rerkamnuaychoke
Background: The discovery of somatic acquired mutations of JAK2 (V617F) in Philadelphia-negative myeloproliferative neoplasms (Ph-negative MPNs) including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) has not only improved rational disease classification and prognostication but also brings new understanding insight into the pathogenesis of diseases. Dosage effects of the JAK2 (V617F) allelic burden in Ph-negative MPNs may partially influence clinical presentation, disease progression, and treatment outcome...
January 10, 2016: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/27889820/ruxolitinib-in-clinical-practice-for-primary-and-secondary-myelofibrosis-an-analysis-of-safety-and-efficacy-of-gruppo-laziale-of-ph-negative-mpn
#8
Massimo Breccia, Alessandro Andriani, Marco Montanaro, Elisabetta Abruzzese, Francesco Buccisano, Michele Cedrone, Antonietta Centra, Nicoletta Villivà, Francesca Celesti, Malgorzata Monica Trawinska, Fulvio Massaro, Ambra Di Veroli, Barbara Anaclerico, Gioia Colafigli, Matteo Molica, Antonio Spadea, Luca Petriccione, Giuseppe Cimino, Roberto Latagliata
Ruxolitinib, a JAK1 and JAK2 inhibitor, has been tested and approved for the treatment of primary and secondary myelofibrosis (MF). Aim of our study is to report safety and efficacy of ruxolitinib in 98 patients affected by MF treated outside clinical trials and collected and treated consecutively by the Lazio Cooperative Group for Ph negative myeloproliferative diseases.There were 45 males and 53 females; median age was 61.8 years (range 35.3-88). Forty-five patients were diagnosed as primary MF and 53 as secondary MF...
November 26, 2016: Annals of Hematology
https://www.readbyqxmd.com/read/27885272/driver-mutations-effect-in-secondary-myelofibrosis-an-international-multicenter-study-based-on-781-patients
#9
F Passamonti, B Mora, T Giorgino, P Guglielmelli, M Cazzola, M Maffioli, A Rambaldi, M Caramella, R Komrokji, J Gotlib, J J Kiladjian, F Cervantes, T Devos, F Palandri, V De Stefano, M Ruggeri, R Silver, G Benevolo, F Albano, D Caramazza, E Rumi, M Merli, D Pietra, R Casalone, T Barbui, L Pieri, A M Vannucchi
Leukemia accepted article preview online, 25 November 2016. doi:10.1038/leu.2016.351.
November 25, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27884974/from-leeches-to-personalized-medicine-evolving-concepts-in-the-management-of-polycythemia-vera
#10
Alessandro Maria Vannucchi
Polycythemia vera (PV), a clonal disorders of hematopoietic stem/progenitor cells that manifests with prevalent expansion of red cell mass, is the most frequent among chronic myeloproliferative neoplasms (MPN). It is characterized by a V617F point mutation in JAK2 exon 14 , or less common mutations in exon 12, in virtually all cases. The landmark discovery of autonomously activated JAK/STAT signaling pathway paved the way for the clinical development of the first target drug, the JAK1 and JAK2 inhibitor ruxolitinib, that is now approved for patients with resistance or intolerance to hydroxyurea...
November 24, 2016: Haematologica
https://www.readbyqxmd.com/read/27883206/diffuse-pulmonary-extramedullary-hematopoiesis-in-myelofibrosis-diagnosed-with-technetium-99m-sulfur-colloid-bone-marrow-scintigraphy-and-single-photon-emission-computerized-tomography-ct
#11
Ming Yang, Michael Roarke
No abstract text is available yet for this article.
November 24, 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27882812/should-we-be-treating-lower-risk-myelofibrosis-patients-with-a-jak2-inhibitor
#12
Guido Lancman, John Mascarenhas
Myelofibrosis (MF) is a Philadelphia chromosome-negative myeloproliferative neoplasm that is associated with debilitating constitutional symptoms, progressive splenomegaly, and cytopenias. Ruxolitinib, a JAK1/2 inhibitor, is currently the only drug approved for the treatment of patients with intermediate or high risk MF. There is rationale and even limited clinical data supporting the use of ruxolitinib in lower risk patients, although this has not yet been validated in a randomized controlled trial. Areas covered: We examine rationale for using ruxolitinib in lower risk MF patients, including survival data from COMFORT-I and COMFORT-II, specific patient populations that may derive clinical benefit, and the future impact of molecular analysis on risk stratification and treatment...
December 5, 2016: Expert Review of Hematology
https://www.readbyqxmd.com/read/27880982/safety-and-efficacy-of-ruxolitinib-in-splanchnic-vein-thrombosis-associated-with-myeloproliferative-neoplasms
#13
Lisa Pieri, Chiara Paoli, Umberto Arena, Fabio Marra, Fabio Mori, Mery Zucchini, Stefano Colagrande, Alessandro Castellani, Arianna Masciulli, Vittorio Rosti, Valerio De Stefano, Silvia Betti, Guido Finazzi, Maria Luisa Ferrari, Elisa Rumi, Marco Ruggeri, Ilaria Nichele, Paola Guglielmelli, Rajmonda Fjerza, Carmela Mannarelli, Tiziana Fanelli, Lucia Merli, Giuditta Corbizi Fattori, Margherita Massa, Giuseppe Cimino, Alessandro Rambaldi, Giovanni Barosi, Mario Cazzola, Tiziano Barbui, Alessandro M Vannucchi
Splanchnic vein thrombosis (SVT) is one of the vascular complications of myeloproliferative neoplasms (MPN). We designed a phase 2 clinical trial to evaluate safety and efficacy of ruxolitinib in reducing splenomegaly and improving disease-related symptoms in patients with MPN-associated SVT. Patients, diagnosed with myelofibrosis in 12 cases, polycythemia vera in 5 and essential thrombocythemia in 4, received ruxolitinib for 24 weeks in the core study period. Spleen volume was assessed by magnetic resonance imaging (MRI) and splanchnic vein circulation by echo-Doppler analysis...
November 23, 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27874969/idiopathic-myelofibrosis-accompanied-by-peritoneal-extramedullary-hematopoiesis-presenting-as-refractory-ascites-in-a-dog
#14
Yolandi Rautenbach, Amelia Goddard, Sarah J Clift
A 2.5-year-old spayed female American Pit Bull Terrier dog presented with a primary complaint of chronic refractory ascites. The dog's CBC displayed a moderate to severe macrocytic, hypochromic, nonregenerative anemia, and a moderate leukopenia as result of a moderate neutropenia and monocytopenia. Microscopic examination of the blood smear showed marked anisocytosis, mild polychromasia, mild acanthocytosis and ovalocytosis, moderate schistocytosis and poikilocytosis, and 4 metarubricytes/100 WBC. Abdominal ultrasonography revealed a homogenous, mild to moderately hyperechoic appearing liver as well as marked amounts of speckled anechoic to slightly hypoechoic peritoneal fluid...
November 22, 2016: Veterinary Clinical Pathology
https://www.readbyqxmd.com/read/27870387/primary-myelofibrosis-2017-update-on-diagnosis-risk-stratification-and-management
#15
Ayalew Tefferi
: Disease overview: Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by stem cell-derived clonal myeloproliferation that is often but not always accompanied by JAK2, CALR or MPL mutation, abnormal cytokine expression, bone marrow fibrosis, anemia, splenomegaly, extramedullary hematopoiesis (EMH), constitutional symptoms, cachexia, leukemic progression and shortened survival. DIAGNOSIS: Diagnosis is based on bone marrow morphology...
December 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27866579/polycythemia-and-thrombocytosis
#16
REVIEW
Aric Parnes, Arvind Ravi
Myeloproliferative neoplasms (MPNs) are diseases of excess cell proliferation from bone marrow precursors. Two classic MPNs, polycythemia vera (PV) and essential thrombocytosis (ET), are conditions of excess proliferation of red blood cells and platelets, respectively. Although PV and ET involve different cells in the myeloid lineage, their clinical presentations have shared features, consistent with overlapping mutations in growth factor signaling. The management of both diseases involves minimizing the risk of thrombotic and hemorrhagic complications...
December 2016: Primary Care
https://www.readbyqxmd.com/read/27858230/efficacy-and-safety-of-jak-inhibitor-inc424-in-patients-with-primary-and-post-polycythemia-vera-or-post-essential-thrombocythemia-myelofibrosis-in-the-chinese-population
#17
Xin Du, Daobin Zhou
A phase II study (A2202) was performed to evaluate the efficacy and safety of JAK inhibitor ruxolitinib in 63 Chinese MF patients. Ruxolitinib was given twice a day (bid) at a starting dose of 15 mg (n = 25) or 20 mg (n = 38) based on a baseline platelet count. About 94.7% of the patients achieved a reduction in spleen size, 27.0% of which exhibited significant reduction (≥ 35%) at week 24. Significant improvement in debilitating constitutional symptoms, as assessed by MFSAF v2.0, was observed in patients treated with ruxolitinib...
November 17, 2016: Frontiers of Medicine
https://www.readbyqxmd.com/read/27855592/role-of-allogeneic-stem-cell-transplant-in-the-treatment-of-primary-myelofibrosis
#18
Nur Soyer, Ferit Celik, Murat Tombuloglu, Fahri Sahin, Guray Saydam, Filiz Vural
OBJECTIVES: The only known curative therapy for primary myelofibrosis is allogeneic hematopoietic stem cell transplant. MATERIALS AND METHODS: We retrospectively evaluated 11 transplant procedures involving 10 patients (5 men and 5 women) diagnosed with primary myelofibrosis between 2005 and 2014. RESULTS: The median age at the time of transplant was 60.5 years (range, 22-62 years). Stem cell sources were unrelated (n=1) and related (n=11) peripheral blood stem cells...
November 18, 2016: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/27853082/early-improvement-in-marrow-fibrosis-following-haploidentical-stem-cell-transplantation-for-a-patient-with-myelodysplastic-syndrome-with-bone-marrow-fibrosis
#19
Shuichiro Takahashi, Riko Tsumanuma, Keiko Aizawa, Mitsumasa Osakabe, Kunihiko Maeda, Ejiro Omoto
The prognosis for myelodysplastic syndrome with bone marrow fibrosis (MDS-F) is worse than the prognosis of MDS without fibrosis. Hematopoietic stem cell transplantation (HSCT) is the only curative therapy; however, the indications and the procedures involved in HSCT remain unclear. We herein describe a 69-year-old Japanese man with MDS-F who received haploidentical HSCT and post-transplantation cyclophosphamide. Although the first HSCT resulted in secondary graft failure, the second HSCT using PTCy led to successful engraftment after early improvement in fibrosis...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27843657/reactivation-of-pulmonary-tuberculosis-following-treatment-of-myelofibrosis-with-ruxolitinib
#20
Maheen Z Abidi, Javeria Haque, Parvathi Varma, Horatiu Olteanu, Guru Subramanian Guru Murthy, Binod Dhakal, Parameswaran Hari
Ruxolitinib is widely in use for treatment of myeloproliferative disorders. It causes inhibition of the Janus kinase (JAK) signal transducer and activation of transcription (STAT) pathway, which plays a key role in the underlying pathophysiology of myeloproliferative diseases. We describe a case of reactivation pulmonary tuberculosis in a retired physician while on treatment with ruxolitinib. We also review the literature on opportunistic infections following use of ruxolitinib. Our case highlights the importance of screening for latent tuberculosis in patients from highly endemic areas prior to start of therapy with ruxolitinib...
2016: Case Reports in Hematology
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